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P51793 Proteins CBS domain Repeats

Uniprot ID:P51793	Protein name: H	Gene : CLCN4
Protein Family:"Chloride channel (TC 2.A.49) family, ClC-4/CLCN4 subfamily"	Squence Length : 760

Sequnce	>P51793 761 MVNAGAMSGSGNLMDFLDEPFPDVGTYEDFHTIDWLREKSRDTDRHRKITSKSKESIWEFIKSLLDAWSGWVVMLLIGLLAGTLAGVIDLAVDWMTDLKEGVCLSAFWYSHEQCCWTSNETTFEDRDKCPLWQKWSELLVNQSEGASAYILNYLMYILWALLFAFLAVSLVRVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLLIKTVTLVLVVSSGLSLGKEGPLVHVACCCGNFFSSLFSKYSKNEGKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEYHTPWYMAELFPFILLGVFGGLWGTLFIRCNIAWCRRRKTTRLGKYPVLEVIVVTAITAIIAYPNPYTRQSTSELISELFNDCGALESSQLCDYINDPNMTRPVDDIPDRPAGVGVYTAMWQLALALIFKIVVTIFTFGMKIPSGLFIPSMAVGAIAGRMVGIGVEQLAYHHHDWIIFRNWCRPGADCVTPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAVTSKWVADAFGKEGIYEAHIHLNGYPFLDVKDEFTHRTLATDVMRPRRGEPPLSVLTQDSMTVEDVETLIKETDYNGFPVVVSRDSERLIGFAQRRELILAIKNARQRQEGIVSNSIMYFTEEPPELPANSPHPLKLRRILNLSPFTVTDHTPMETVVDIFRKLGLRQCLVTRSGRLLGIITKKDVLRHMAQMANQDPESIMFN
Domains	DOMAIN 600 666 CBS 1 DOMAIN 697 755 CBS 2
CBS sequence regions	600 - 666 PRRGEPPLSVLTQDSMTVEDVETLIKETDYNGFPVVVSRDSERLIGFAQRRELILAIKNARQRQEGI 697 - 755 LSPFTVTDHTPMETVVDIFRKLGLRQCLVTRSGRLLGIITKKDVLRHMAQMANQDPESI
Function	Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons
Motifs	MOTIF 180 184 Selectivity filter part_1. MOTIF 222 226 Selectivity filter part_2. MOTIF 467 471 Selectivity filter part_3
Binding Site	BINDING 181 181 Chloride. BINDING 469 469 Chloride. via amide nitrogen. BINDING 572 572 Chloride. BINDING 610 610 ATP. via amide nitrogen and carbonyl oxygen
Nucleotide Binding	NP_BIND 631 633 ATP. NP_BIND 738 741 ATP
Mutation	"224 224 E->A: Restores chloride translocation, but not proton transport when associated with A-281 281 281 E->A: Abolishes translocation of protons and chloride ions"
Disease	"DISEASE: Mental retardation, X-linked 49 (MRX49) [MIM:300114]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations Note=The disease is caused by mutations affecting the gene represented in this entry"